ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A

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Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.*2068C>T rs576 0.33688
NM_001354604.2(MITF):c.*2505C>T rs704246 0.29266
NM_001354604.2(MITF):c.*48T>C rs9863910 0.11996
NM_001354604.2(MITF):c.*1248T>C rs2131025 0.07575
NM_001354604.2(MITF):c.*824T>A rs114659118 0.02066
NM_001354604.2(MITF):c.*2458G>A rs77962238 0.01521
NM_001354604.2(MITF):c.*1150T>C rs150314710 0.01496
NM_001354604.2(MITF):c.355-1135G>A rs77588960 0.01433
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_001354604.2(MITF):c.*2170A>G rs78240629 0.01047
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_001354604.2(MITF):c.*2580C>T rs139487027 0.00303
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001354604.2(MITF):c.*836G>T rs558793046 0.00194
NM_001354604.2(MITF):c.*2924C>T rs151043552 0.00174
NM_001354604.2(MITF):c.*3033A>G rs139770177 0.00150
NM_001354604.2(MITF):c.*1941A>G rs192503700 0.00100
NM_001354604.2(MITF):c.*556T>C rs573364713 0.00100
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_001354604.2(MITF):c.1031+14C>T rs201353723 0.00077
NM_001354604.2(MITF):c.*379T>C rs552044239 0.00071
NM_001354604.2(MITF):c.*228C>T rs190540926 0.00069
NM_001354604.2(MITF):c.*1570C>T rs528276006 0.00055
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala) rs142263283 0.00050
NM_001354604.2(MITF):c.*1502A>T rs766340943 0.00043
NM_001354604.2(MITF):c.*1491A>G rs80212793 0.00042
NM_001354604.2(MITF):c.355-1113C>T rs199515469 0.00041
NM_001354604.2(MITF):c.*2881C>T rs575491126 0.00039
NM_001354604.2(MITF):c.*2588G>A rs559658244 0.00035
NM_001354604.2(MITF):c.*286G>A rs187361634 0.00029
NM_001354604.2(MITF):c.*235T>C rs183031244 0.00028
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
NM_001354604.2(MITF):c.*2673T>G rs75204045 0.00017
NM_001354604.2(MITF):c.*1380A>G rs560413518 0.00015
NM_001354604.2(MITF):c.*12T>C rs201375960 0.00012
NM_001354604.2(MITF):c.882G>A (p.Ala294=) rs778126895 0.00011
NM_001354604.2(MITF):c.*3060C>T rs768539283 0.00009
NM_001354604.2(MITF):c.*524T>G rs769353314 0.00009
NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser) rs368915509 0.00008
NM_001354604.2(MITF):c.*802A>T rs190223113 0.00007
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00007
NM_001354604.2(MITF):c.644A>T (p.His215Leu) rs761038653 0.00007
NM_001354604.2(MITF):c.*2077G>T rs886058816 0.00006
NM_001354604.2(MITF):c.*2753T>C rs886058819 0.00006
NM_001354604.2(MITF):c.1032-4G>A rs199779059 0.00006
NM_001354604.2(MITF):c.*1893C>T rs886058815 0.00005
NM_001354604.2(MITF):c.*2868T>C rs529623175 0.00005
NM_001354604.2(MITF):c.*1666T>G rs995848515 0.00004
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
NM_001354604.2(MITF):c.990C>T (p.Arg330=) rs147883651 0.00004
NM_001354604.2(MITF):c.*1933C>T rs555688827 0.00003
NM_001354604.2(MITF):c.1031+15G>A rs144757214 0.00003
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 0.00003
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_001354604.2(MITF):c.*447C>A rs546175299 0.00002
NM_001354604.2(MITF):c.1180-11T>C rs538450872 0.00002
NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala) rs199992377 0.00002
NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys) rs150995386 0.00002
NM_001354604.2(MITF):c.881C>T (p.Ala294Val) rs373945151 0.00002
NM_001354604.2(MITF):c.*1101G>A rs557878790 0.00001
NM_001354604.2(MITF):c.*1120C>A rs544152010 0.00001
NM_001354604.2(MITF):c.*115C>T rs886058809 0.00001
NM_001354604.2(MITF):c.*2079A>C rs886058817 0.00001
NM_001354604.2(MITF):c.*2160A>G rs551574413 0.00001
NM_001354604.2(MITF):c.*23C>T rs746168511 0.00001
NM_001354604.2(MITF):c.*2632C>T rs984300026 0.00001
NM_001354604.2(MITF):c.*2807G>A rs938427203 0.00001
NM_001354604.2(MITF):c.*2952T>C rs2066737952 0.00001
NM_001354604.2(MITF):c.*309T>C rs1268402530 0.00001
NM_001354604.2(MITF):c.*421G>T rs886058812 0.00001
NM_001354604.2(MITF):c.*486G>A rs563236295 0.00001
NM_001354604.2(MITF):c.*662T>C rs886058813 0.00001
NM_001354604.2(MITF):c.*810T>A rs987275102 0.00001
NM_001354604.2(MITF):c.1056C>T (p.Thr352=) rs766006413 0.00001
NM_001354604.2(MITF):c.1064A>G (p.Lys355Arg) rs751147980 0.00001
NM_001354604.2(MITF):c.1179+14G>A rs370391171 0.00001
NM_001354604.2(MITF):c.1179+15T>C rs748644115 0.00001
NM_001354604.2(MITF):c.355-1062G>C rs1236436555 0.00001
NM_001354604.2(MITF):c.355-1219G>A rs995608975 0.00001
NM_001354604.2(MITF):c.989G>A (p.Arg330His) rs763119975 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 0.00001
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
NM_000248.4(MITF):c.33+1G>A rs1553701477
NM_001354604.2(MITF):c.*1270G>A rs137975240
NM_001354604.2(MITF):c.*1770C>T rs2066705119
NM_001354604.2(MITF):c.*1869G>T rs886058814
NM_001354604.2(MITF):c.*1934G>T rs572298352
NM_001354604.2(MITF):c.*2029A>T rs571540517
NM_001354604.2(MITF):c.*2140T>C rs2066715422
NM_001354604.2(MITF):c.*2275G>A rs550114890
NM_001354604.2(MITF):c.*2294A>G rs1576076650
NM_001354604.2(MITF):c.*24G>A rs375847754
NM_001354604.2(MITF):c.*2552A>G rs146395033
NM_001354604.2(MITF):c.*2831A>G rs2066734484
NM_001354604.2(MITF):c.*2892C>T rs1041442510
NM_001354604.2(MITF):c.*2918C>G rs2066737398
NM_001354604.2(MITF):c.*442A>G rs1222694868
NM_001354604.2(MITF):c.*581G>A rs930647904
NM_001354604.2(MITF):c.*75G>T rs2066664856
NM_001354604.2(MITF):c.*857C>G rs575556062
NM_001354604.2(MITF):c.*857C>T rs575556062
NM_001354604.2(MITF):c.1000dup (p.Leu334fs) rs1576047519
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1044dup (p.Asn349fs) rs2066481098
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu) rs2107536936
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter) rs149617956
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer) rs2107552061
NM_001354604.2(MITF):c.1291dup (p.Cys431fs) rs2107552171
NM_001354604.2(MITF):c.1320A>T (p.Ala440=) rs886058808
NM_001354604.2(MITF):c.1377del (p.Asn459fs) rs2066652447
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) rs548265796
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter) rs2107478777
NM_001354604.2(MITF):c.505A>G (p.Met169Val) rs143224466
NM_001354604.2(MITF):c.531A>G (p.Ala177=) rs1193795003
NM_001354604.2(MITF):c.621C>T (p.Ser207=) rs370323877
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.669G>A (p.Met223Ile) rs1032758072
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.808C>T (p.Leu270=) rs1439150504
NM_001354604.2(MITF):c.861C>G (p.Asn287Lys) rs2066177332
NM_001354604.2(MITF):c.899_900del (p.Glu300fs) rs2107519404
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) rs2066264802
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) rs2066265350
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.955+1G>C rs2107519634
NM_001354604.2(MITF):c.955+1G>T rs2107519634
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001354604.2(MITF):c.969_973del (p.Arg323fs) rs2066400330
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
NM_006941.4(SOX10):c.1091del (p.Gln364fs) rs1555937398
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.4(SOX10):c.430del (p.Leu144fs) rs1555938422
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
Single allele

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